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  • ISSN: 2373-9312
    A Novel Mutation in the L1CAM Gene: A Tale of Two Brothers
    Authors: Samuel Levi, Leina Alrabadi, Preeti Singh, Angela Flores* and Vijay Tonk
    Abstract: L1 syndrome encompasses a spectrum of conditions that includes a common clinical finding of congenital hydrocephalus and X-linked inheritance. L1CAM is the only gene implicated in this condition. Approximately 247 different mutations have been reported in 300 families.
    Proptosis is a Pediatric Dilemma
    Authors: Altonbary Y, Mansour AK, Sarhan M, Alwakeel AA, Abdelmabood S, Elmahdi HS and Darwish A
    Abstract: Childhood proptosis is quite different from that of the adult. While thyroid orbitopathy is the most common cause in adults, proptosis among children can be caused by: infection, inflammation, vascular and developmental malformation and finally malignancies.
    Latest Articles
    Research Article
    Hamufare Mugauri, Owen Mugurungi, Sithabiso Dube, Tapuwa Magure, Tsitsi Juru*, Notion Tafara Gombe, Gerald Shambira, and MufutaTshimanga
    Background: Neonatal sepsis is among the leading causes of morbidity and mortality among term and preterm infants particularly in Neonatal Intensive Care Units (NICU). Pathogens implicated are mostly hospital-acquired. Parirenyatwa NICU experienced a surge in neonatal sepsis incidences, recording 108 cases and 41 deaths in five months. We determined the source and the factors that facilitated the infection.
    Methods: A cohort study of neonates admitted from 1 June to 31 October 2016 using secondary data, key informant interviews and checklists were conducted. Environmental and hand swabs were collected for laboratory analyses. Neonatal sepsis was defined as a clinical syndrome resultant from systemic infection. Epi Info was used to compute proportions, relative risks, attributable risks at 5% significance level.
    Results: All 641 clinical records of admitted neonates were reviewed. One hundred and two (94%) of neonate sepsis patients were hospital-acquired. Suctioning (RR=9.6; 95%CI, 5.4-17.1) increased the risk for neonatal sepsis and 80.6% neonatal sepsis cases were attributable to mechanical ventilation (95%CI, 71.5-89.6). Klebsiella and Pseudomonas Species were isolated from ward equipment and sinks. Hand swabs yielded Pseudomonas and Staphylococci Species. Among neonatal sepsis patients, 78.2% (n=101) yielded positive Klebsiella cultures [RR 2.0; (95%CI 1.5-2.8), AR% 48.4; (95%CI 33.4-63.4)]. The excess risk of death from neonatal sepsis was 34.2 per 100.
    Conclusion: Outbreak was driven by Klebsiella induced, hospital-acquired sepsis, from a common-continuous source and spread through cross infection. Suspending mechanical ventilation and thorough disinfection controlled the outbreak. Compliance with infection control protocol and surveillance of neonatal infections were considered for prevention of similar outbreaks.
    Klaus Greier*, Clemens Drenowatz, Gerhard Ruedl, Klaudia Kroell, Carla Lackner, Werner Kirschner, and Veronika Feurstein-Zerlauth
    Objective: The development of motor competence during childhood has important implications for future health and well-being. The present study examined the association of overweight and obesity with motor competence in 6- to 8-year-old school children.
    Methods: In a cross-sectional study 18 elementary schools in the federal state of Tyrol, Austria were randomly selected for participation. Motor competence was assessed in 857 (422 boys; 435 girls), children between March and December 2017 using the German Motor Test. Body weight and height were measured following standard procedures with children in sports clothes and being barefoot. Participants were categorized into four weight groups based on the German BMI reference system: group I (anorexic/underweight), group II (normal weight), group III (overweight) and group IV (obese). Differences across weight categories (underweight, normal weight, overweight, obese) were determined via ANOVA, using Bonferroni adjustment being for post-hoc analyses.
    Results: Out of the 857 school children 9.0% were overweight and 6.1% were obese. The prevalence of overweight and obesity increased from 5.7% in the 6-year old participants to 10.6% in the 8-year-old participants (p= 0.004). Motor competence of children with normal body weight or underweight was significantly higher than that of their peers with overweight or obesity (p< 0.001). Further, children with obesity displayed significantly lower motor competence scores than children with overweight (p< 0.001).
    Conclusion: Motor competence is an important contributor to a healthy development in children. Comprehensive, preventive efforts, therefore, should emphasize motor development, particularly in elementary school, when targeting an active lifestyle and healthy body weight.
    Raddaoui K, Radhouani M, Bhar M, Trigui E, Zoghlami K, Nasri O and Kaabachi O*
    Introduction: Postoperative pain management in children after spinal surgery is a crucial issue that deserves much attention. Multimodal analgesia appears to be the most appropriate approach to optimize pain control. Pregabalin has proven its efficacy in improving postoperative pain scores and considerably reducing opioid consumption in adults. The aim of the study was to demonstrate the analgesic effect of pregabalin for postoperative pain relief after scoliosis surgery in adolescents.
    Methods: Forty adolescents with idiopathic scoliosis scheduled to undergo a posterior corrective spinal surgery, were assigned to receive either pregabalin 150 mg orally (pregabalin group, n=20) or a placebo (control group, n=20) one hour before surgery and 12 hours postoperatively. Patient received also, paracetamol 15 mg/Kg four times per day, 20 mg of piroxicam orally twice-a-day and morphine administered via PCA pump, for 48 hours. Total postoperative morphine consumption and severity of pain at rest and on movement using a 10 cm-Visual analogic scale pain score were measured 48 hours following surgery.
    Case Report
    Marilia Barbosa de Matos, Angelica Luciana Nau, Adriana Banzzatto Ortega, Tiago S. Bara, and Mara L. Cordeiro*
    Introduction: Here we report a rare pediatric case of stiff person syndrome (SPS), a rare neurological disorder characterized by persistent muscular rigidity and spasm affecting primarily axial muscles.
    Patient description: An 11 year-old boy presented with a 1-year history of axial muscle pain associated with sternocleidomastoid muscle contractions that progressed to bilateral arm muscle contractions. His medical history included febrile seizures and a learning disability. Physical examination revealed generalized bilateral rigidity of the arms and lateral neck. Laboratory test results were normal. Electroneuromyography showed unremitting paravertebral muscular contraction. Clonazepam treatment improved the patients functional status and diminished his pain.
    Conclusion: Although SPS is rare, pediatricians should be aware of its diagnostic criteria and the potential to treat juvenile SPS with benzodiazepines.
    Reveiw Article
    Clemens Drenowatz and Klaus Greier*
    Despite considerable efforts, obesity rates in youth have been rising or plateaued at a high level throughout the world. Global data indicate that 1 in 10 school-aged children are overweight or obese. Due to the increased risks for physical and psychological problems along with an estimated 10% of total health care costs attributed to weight-related health problems, a high prevalence of overweight and obesity has been identified as a major threat to future public health. Current intervention strategies addressing this problem, however, have been of limited success and alternative strategies are warranted. Given the importance of physical activity (PA) along with healthy nutrition in long term weight management, a stronger emphasis on the development of motor competence may be a valuable strategy in the promotion of an active lifestyle and healthy body weight in youth. Even though available data indicates a reciprocal, synergistic relationship between motor competence, PA and body weight, there appears to be a shift in strength and directionality over time. Particularly during late childhood and adolescence motor competence appears to be a crucial determinant of subsequent PA and healthy body weight, while diverse movement experiences form the foundation for motor competence during early childhood. By discussing the empirical evidence on the longitudinal associations of motor competence, PA and body weight along with major theoretical models this narrative review emphasizes the potential contribution of a focus on motor competence in the promotion of an active lifestyle and healthy body weight in youth.
    Short Communication
    Lopes A, Bermudez BEBV*, Bet M, Antoniuk S, Monica NL. Cat, Neiva IR. Magdalena, and Ana CS. Crippa
    Down syndrome is the most common chromosome disorder. One constant concern is the care to improve development and quality of life that may be affected by the onset of West syndrome. The aim of this retrospective study is analyze the prevalence and evolution of West syndrome in patients seen at a Down syndrome outpatient clinic. Data was gathered from the medical files of 1,212 patients with Down syndrome, among whom 22 (1.9%) had been diagnosed with West syndrome. The data was analyzed using StatisticaR software. Among the 22 patients with West syndrome, 11 (50%) were male. The onset of spasms occurred at a median of 7 months (3-57). Patients received vigabatrin as first treatment with total control of spasms in 81.8%. Five patients (22.7%) developed epilepsy. A higher frequency of autistic spectrum disorder (29.4% versus 5.9%, p < 0.001) and seizures (17.6% versus 2.8%, p < 0.001) was observed. Pediatricians should promptly request an electroencephalogram when faced with a child with spasms. If hypsyarrhythmia is detected, it is West syndrome, improving the prognosis when early treated. Development is recovered after seizure control with the specific treatment (vigabatrin or ACTH) instituted early.
    Research Article
    Vijay CS* and Chen CB
    Infections in the infratemporal region can be a major source of morbidity and have been known to occur after dental procedures. Neurovascular structures running through the infratemporal fossa serve as a source for infections to track to different areas of the head and neck. The proximity of the infratemporal fossa to other major structures makes timely diagnosis critical. Infratemporal fossa abscesses are a rare complication and only a few cases have been described in the literature. As the clinical symptoms may be non-specific, the diagnosis may be challenging for healthcare providers. We describe a patient who presented with facial swelling and trismus following wisdom tooth extraction who was found to have an infratemporal fossa abscess.
    Case Report
    Karabayir N*, Eren A, Canbeyli G, and Celebi M
    Background: Bloody nipple discharge is extremely rare in children. The etiology and pathophysiology remain uncertain, with the most common cause being mammary ductal ectasia. In this paper, we present two cases with nipple discharge bleeding.
    Case presentation: Two baby girls presented with bleeding from the nipple. The baby who was six-months-old presented with bilateral bleeding and the baby who was three-months-old presented with bleeding from the right nipple. Physical examination and laboratory evaluations of the patients did not show any features. Both of the patients had bilateral fibrocystic changes found in the mammary ultrasonography. In both cases, breast nipple bleedings disappeared spontaneously.
    Conclusion: Breast nipple discharge is rarely seen in infants. Its etiology and pathophysiology is still unclear. Primarily these cases should be followed conservatively.
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